Desbuquois syndrome in three sisters with significantly different lengths of survival

Lloyd, Andrew R.; Ragosta, Kevin G.; Bryke, Christine R.; Hoo, Joe J.

doi:10.1002/ajmg.a.31232

Cited by 2 publications

(2 citation statements)

References 6 publications

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“…The second patient was also severely affected but with a milder course and disease outcome. Differences in disease severity have been reported in many studies [Le Merrer et al, 1991;Jequier et al, 1992;Al-Gazeli et al, 1996;Nishimura et al, 1999;Hall, 2001;Lloyd et al, 2006;Al Kaissi et al, 2009b;Faden et al, 2010;Laccone et al, 2011;Inoue et al, 2014]. In the present study, kyphosis and scoliosis were more evident in patient 2 as compared to patient 1.…”

Section: Discussionsupporting

confidence: 66%

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

Thomas¹,

Ashaat²,

Otaify³

et al. 2021

Mol Syndromol

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Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated Egyptian patients having the characteristic features of DBQD1 with different expressivity. Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. The 2 patients shared radiological features suggestive of DBQD1. Whole-exome sequencing revealed a homozygous frameshift mutation in the CANT1 gene (NM_001159772.1:c.277_278delCT; p.Leu93ValfsTer89) in patient 1 and a homozygous missense mutation (NM_138793.4:c.898C>T; p.Arg300Cys) in patient 2. Phenotypic variability and variable expressivity of DBQD was evident in our patients. Hypoplastic scrotum and hypospadias were additional unreported associated findings, thus expanding the phenotypic spectrum of the disorder. We reviewed the main features of skeletal dysplasias exhibiting similar radiological manifestations for differential diagnosis. We suggest that the variable severity in both patients could be due to the nature of the CANT1 gene mutations which necessitates the molecular study of more cases for phenotype-genotype correlations.

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Section: Discussionsupporting

confidence: 66%

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

Thomas¹,

Ashaat²,

Otaify³

et al. 2021

Mol Syndromol

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“…While severe antenatal growth retardation and postnatal lethality in DBQD is of concern, there seems to be significant variability in prognosis and severity of growth failure. Some affected children die neonatally mainly due to respiratory compromise [Hall, 2001; Lloyd et al, 2006], while other children survive without any serious clinical symptoms [Le Merrer et al, 1991; Jequier et al, 1992; Nishimura et al, 1999; Lam et al, 2003]. Nishimura et al 1999 have suggested that this latter group of patients have “a mild variant of Desbuquois dysplasia.” None of our patients had histories of antenatal growth failure.…”

Section: Discussionmentioning

confidence: 99%

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Kim

Nishimura

Song

et al. 2010

American J of Med Genetics Pt A

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We present the clinical and radiological findings of seven patients with a seemingly new variant of Desbuquois dysplasia (DBQD) and emphasize the radiographic findings in the hand. All cases showed remarkably accelerated carpal bone ages in childhood, but none of the patients had an accessory ossification center distal to the second metacarpal, or thumb anomalies, instead, there was shortness of one or all metacarpals, with elongated appearance of phalanges, resulting in nearly equal length of the second to fifth fingers. The two sibs followed for 20 years showed narrowing and fusion of the intercarpal joints with age and ultimately, precocious degenerative arthritis. The changes in the feet were similar to those of the hands, with advanced tarsal bone ages, shortness of the metatarsals and elongation of the second and third toes. Other radiographic 875findings were narrowness of the intervertebral disc spaces resulting in precocious degenerative spondylosis and progressive scoliosis. The femoral neck was short and thick and showed a persistent enlargement of the lesser trochanter with a highriding, bulbous greater trochanter that became more prominent with age. Molecular testing of the diastrophic dysplasia sulfate transporter (DTDST) gene was performed on six patients and no mutations were detected. This radiographic and clinical observation further adds to the evidence that there may be subtypes of DBQD. Long-term follow-up showed that severe precocious osteoarthritis of the hand and spine is a major manifestation of this specific variant. Ó

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Desbuquois syndrome in three sisters with significantly different lengths of survival

Cited by 2 publications

References 6 publications

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous <b><i>CANT1</i></b> Mutations

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous <b><i>CANT1</i></b> Mutations

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

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